Molecular Biology Reports

, Volume 46, Issue 2, pp 1701–1707 | Cite as

Association between selected cholesterol-related gene polymorphisms and Alzheimer’s disease in a Turkish cohort

  • Gamze GuvenEmail author
  • Eren Vurgun
  • Basar Bilgic
  • Hasmet Hanagasi
  • Hakan Gurvit
  • Ebru Ozer
  • Ebba Lohmann
  • Nihan Erginel-Unaltuna
Original Article


Numerous genetic evidence has pointed out that variations in cholesterol-related genes may be associated with an Alzheimer’s disease (AD) risk. We aimed to investigate the association between polymorphisms in several cholesterol-related genes [APOA5 (rs662799), APOC1 (rs11568822), APOD (rs1568565), CH25H (rs13500), LDLR (rs5930), SORL1 (rs2282649)] and AD in a cohort of Turkish patients. The study group consisted of 257 AD patients (mean age: 75.9 years ± 10.4) and 414 controls (mean age: 62.2 years ± 13.1). Genotyping was performed by quantitative real-time polymerase chain reaction using hydrolysis probes. Our results showed that the ‘TT’ genotype of CH25H rs13500 polymorphism was significantly more frequent in the AD group (p < 0.001) and individuals carrying the CH25H ‘T’ allele had an increased risk for AD (OR 3.07, 95% CI 2.13–4.44, p = 2.20e−09) independently from age, gender and APOE ε4 allele. Moreover, this risk was excessively increased (OR 14.04, 95% CI 6.99–28.23, p = 9.78e−14) in the presence of APOE ε4 allele. The ‘ins/ins’ genotype of APOC1 rs11568822 was significantly more frequent in the AD group compared to controls (p = 1.95e−08). However, this increased AD risk in ‘ins/ins’ carriers was found to be dependent on their APOE ε4 carrier status. No significant associations were found in allele and genotype distributions of APOA5, APOD, LDLR and SORL1 gene polymorphisms. Our results suggest that the association between APOC1 ‘ins/ins’ genotype and AD risk can be explained by linkage disequilibrium with the APOE locus. CH25H rs13500 polymorphism is associated with an AD risk in the Turkish population and CH25H might have a role in the pathogenesis of AD together with, and independently from APOE.


Alzheimer’s disease Cholesterol metabolism Polymorphism Risk 



The authors thank all the patients and their families. Meltem Pak helped with obtaining the samples. This work was supported by the Research Fund of Istanbul University (Project No: TAB-2017-23218).

Compliance with ethical standards

Conflict of interest

The authors have no actual or potential conflicts of interest.

Supplementary material

11033_2019_4619_MOESM1_ESM.docx (43 kb)
Supplementary material 1 (DOCX 43 KB)


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Copyright information

© Springer Nature B.V. 2019

Authors and Affiliations

  1. 1.Department of Genetics, Aziz Sancar Institute of Experimental MedicineIstanbul UniversityIstanbulTurkey
  2. 2.Department of Medical BiochemistryOkmeydani Training and Research HospitalIstanbulTurkey
  3. 3.Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of MedicineIstanbul UniversityIstanbulTurkey
  4. 4.Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain ResearchUniversity of TübingenTübingenGermany
  5. 5.DZNE, German Center for Neurodegenerative DiseasesTübingenGermany

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